BRCA1 c.4656C>G ;(p.Y1552*)

Variant ID: 17-41226367-G-C

NM_007294.3(BRCA1):c.4656C>G;(p.Y1552*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRCA1: 4656C>G; Tyr1552Ter; rs80357151
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136-s01.xlsx, sheet 3
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 4656C>G; Tyr1552Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 4656C>G; Tyr1552*; rs80357151
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 1
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 4656C>G; Tyr1552X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: rs80357151
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s007.xlsx, sheet 2
  • IJC-145-962-s004.xlsx, sheet 1
  • IJC-145-962-s007.xlsx, sheet 4
View BVdb publication page



The role of Rak in the regulation of stability and function of BRCA1.

Oncotarget
Kim, Jung-Lye JL; Ha, Geun-Hyoung GH; Campo, Loredana L; Denning, Mitchell F MF; Patel, Tarun B TB; Osipo, Clodia C; Lin, Shiaw-Yih SY; Breuer, Eun-Kyoung EK
Publication Date: 2017-10-17

Variant appearance in text: BRCA1: 4656C>G; Tyr1552Terfs
PubMed Link: 29156836
Variant Present in the following documents:
  • Main text
  • oncotarget-08-86799.pdf
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: BRCA1: Y1552*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

Plos One
Kwong, Ava A; Ng, Enders Kai On EK; Wong, Chris Lei Po CL; Law, Fian Bic Fai FB; Au, Tommy T; Wong, Hong Nei HN; Kurian, Allison W AW; West, Dee W DW; Ford, James M JM; Ma, Edmond Siu Kwan ES
Publication Date: 2012

Variant appearance in text: BRCA1: 4656C>G; Tyr1552X
PubMed Link: 22970155
Variant Present in the following documents:
  • Main text
  • pone.0043994.pdf
View BVdb publication page